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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
ABSTRACTS CONGRÈS STCCCV 2022.
Allouche E, Lachter G, Aissa MS, Ben Jemaa H, Boudiche F, Ben Ahmed H, Ouechtati W, Bezdah L, Bousnina S, Antit S, Ben Kaab B, Boussabah E, Zakhama L, Brahmi H, Ammar F, Belkhiria H, Dali A, Daassa C, Jamel A, Ben Halima N, Hamdani A, Ajra Z, Bayar MF, Gheni R, Rashikou L, Ben Hmida R, Ounissi T, Ibn Elhadj Z, Chelbi H, Fekih R, Boufares A, Thameur M, Abdelhedi M, Neji S, Boudiche F, Chetoui A, Ouechtati W, Cherif N, Mekki N, Slim M, Ouannes S, Ghardallou H, Neffati E, Kadardar F, Hachani M, Iddir S, Marzouki Y, Dardour S, Mejber W, Ben Slima H, Lassoued T, Chamtouri I, Jomaa W, Ben Hamda K, Maatouk F, Hakim K, Ben Othmen R, Msaad H, Ouarda F, Ben Gandoura A, Ben Halima A, Taktak I, Draoui Y, Yaakoubi W, Tamallah K, Chourabi C, Oussema M, Haggui A, Hajlaoui N, Fehri W, Ben Romdhane R, Tlili R, Azaiez F, Bachraoui K, Drissa M, Ben Youssef A, Fatou AW, Khadra H, Diouf MT, Ba S, Diouf D, Sarr MN, Mingou JS, Sarr SA, Dioum M, Ngaide AA, Beye SM, Manga S, Affangla DA, Diouf Y, Diop KH, Bodian M, Leye MMCB, Ndiaye MB, Mbaye A, Kane AD, Diao M, Kane A, Ben Ghorbel C, Soudani S, Gribaa R, Leye M, Ismael Ibouroi MH, Ba EHM, Affangla DA, Ba DM, Diagne Diallo A, Fall AL, Saidane S, Mz… See abstract for full author list ➔ Allouche E, et al. Among authors: mekki n. Tunis Med. 2022 Novembre;100(11):809-818. Tunis Med. 2022. PMID: 37551524 No abstract available.
Reversion of neurovirulent mutations, recombination and high intra-host diversity in vaccine-derived poliovirus excreted by patients with primary immune deficiency.
Ben Salem I, Khemiri H, Drechsel O, Arbi M, Böttcher S, Mekki N, Ben Fraj I, Souiai O, Yahyaoui M, Ben Farhat E, Meddeb Z, Touzi H, Ben Mustapha I, BenKahla A, Ouederni M, Barbouche MR, Diedrich S, Triki H, Haddad-Boubaker S. Ben Salem I, et al. Among authors: mekki n. J Med Virol. 2024 Sep;96(9):e29918. doi: 10.1002/jmv.29918. J Med Virol. 2024. PMID: 39311394
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M. Mellouli F, et al. Among authors: mekki n. J Clin Immunol. 2015 Nov;35(8):745-53. doi: 10.1007/s10875-015-0206-9. Epub 2015 Oct 13. J Clin Immunol. 2015. PMID: 26464197 Review.
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.
Chavoshzadeh Z, Fallah S, Zeinali V, Sharafian S, Delavari S, Mesdaghi M, Djidjik R, Belaid B, Ikinciogullari A, Haskologlu S, Dogu F, Genel F, Gulez N, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Meric Z, Kutukculer N, Aygun A, Aksu G, Karaca NE, Geyik M, Keles S, Reisli I, Nail Guner S, Boukari R, Hakem S, Belbouab R, Barbouche MR, Ben-Mustapha I, Mekki N, Ben-Ali M, Sobh A, Elnagdy M, Djenouhat K, Tahiat A, Shendi HM, Alkuwaiti A, Nasrullayeva G, Alfars T, Alsukaiti N, Massaad M, Mehawej C, Megarbane A, Irani C, Elghazali G, Al-Tamemi S, Khalifa N, Alzyoud R, Gultekin SSK, Kose H, Khodaverdy H, Shamsian BS, Eslami N, Momen T, Sherkat R, Aleyasin S, Esmaeilzadeh H, Ahanchian H, Salami F, Fekrvand S, Dupre L, Ochs HD, Rezaei N, Al-Herz W, Abolhassani H. Chavoshzadeh Z, et al. Among authors: mekki n. Front Genet. 2025 Aug 8;16:1584681. doi: 10.3389/fgene.2025.1584681. eCollection 2025. Front Genet. 2025. PMID: 40860338 Free PMC article.
Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.
Yaakoubi R, Mekki N, Ben-Mustapha I, Ben-Khemis L, Bouaziz A, Ben Fraj I, Ammar J, Hamzaoui A, Turki H, Boussofara L, Denguezli M, Haddad S, Ouederni M, Bejaoui M, Chan KW, Lau YL, Mellouli F, Barbouche MR, Ben-Ali M. Yaakoubi R, et al. Among authors: mekki n. Front Immunol. 2023 Jan 10;13:1057679. doi: 10.3389/fimmu.2022.1057679. eCollection 2022. Front Immunol. 2023. PMID: 36703986 Free PMC article.
53 results